Independent validation of the adjusted GAPSS: Role of thrombotic risk assessment in the real-life setting.

Objective The objective of this report is to independently validate the adjusted Global Antiphospholipid Syndrome Score (aGAPSS) to predict thrombosis in a cohort of patients with APS and/or autoimmune disease. Methods This retrospective cohort study included 319 consecutive patients with APS and/or autoimmune disease. Data on clinical manifestations, conventional cardiovascular risk factors and aPL profile were collected. The aGAPSS was calculated for each patient by adding together the points corresponding to the risk factors. Results Among the 319 patients included (mean age: 48.0; SD 15.47), conducted over a mean period of 52 months (range: 19-394), 219 fulfilled the current APS classification criteria (PAPS diagnosed in 130 patients and APS associated autoimmune disease (aAPS) in 89 patients), and 100 patients with autoimmune disease without APS (AD). A total of 201 patients (63.0%) had a history of one or several thrombotic manifestations, 189 (86.3%) of them APS patients: 118 PAPS (mean age: 50.14; SD 15.47) and 71 aAPS (mean age: 48.13; SD 15.81). Higher aGAPSS baseline values were seen in patients with thrombosis 6.58 (SD 3.36) when compared with those without 4.90 (SD 4.33) ( p = 0.001). Conclusions This study has shown that even when anti-phosphatidylserine/prothrombin antibodies (aPS/PT) are not computed in an adjusted model of GAPSS (aGAPSS), this score represents an improvement in assessment of the risk prediction of thrombosis in APS patients and/or autoimmune disease. However, cut-off values may differ from other kinds of cohorts, which suggests that baseline characteristics in divergent groups of patients can account for differences in cut-off values of GAPSS.

Polypathology, polypharmacy, medication regimen complexity and drug therapy appropriateness. / Pluripatología, polifarmacia, complejidad terapéutica y uso adecuado de la medicación.

Polypathological patients are usually elderly and take numerous drugs. Polypharmacy affects 85% of these individuals and is not associated with greater survival. On the contrary, polypharmacy exposes these individuals to more adverse effects, such as weight loss, falls, functional and cognitive impairment and hospitalisations. The complexity of a drug regimen covers more aspects than the simple number of drugs consumed. The galenic form, the dosage and the method for preparing the drug can impede the understanding of and compliance with prescriptions. Both polypharmacy and therapeutic complexity are associated with poorer adherence by patients. To prevent polypharmacy, reduce complexity and improve adherence, the appropriate use of drugs is needed. Proper prescribing consists of selecting drugs that have clear evidence for their use in the indication, which are appropriate for the patient's circumstances, are well tolerated and cost-effective and whose benefits outweigh the risks. To improve the drug prescription, periodic reviews of the drugs need to be conducted, especially when the patient changes doctor and during healthcare transitions. The Beers and STOPP/START (Screening Tool of Older Person's potentially inappropriate Prescriptions/Screening Tool to Alert doctors to the Right Treatment) criteria are effective tools for this improvement. Deprescription for polymedicated polypathological patients that considers their clinical circumstances, prognosis and preferences can contribute to a more appropriate use of drugs.

Registry of the Spanish Network for Systemic Sclerosis: Survival, Prognostic Factors, and Causes of Death.

Systemic sclerosis (SSc) is a rare, multisystem disease showing a large individual variability in disease progression and prognosis. In the present study, we assess survival, causes of death, and risk factors of mortality in a large series of Spanish SSc patients. Consecutive SSc patients fulfilling criteria of the classification by LeRoy were recruited in the survey. Kaplan-Meier and Cox proportional-hazards models were used to analyze survival and to identify predictors of mortality. Among 879 consecutive patients, 138 (15.7%) deaths were registered. Seventy-six out of 138 (55%) deceased patients were due to causes attributed to SSc, and pulmonary hypertension (PH) was the leading cause in 23 (16.6%) patients. Survival rates were 96%, 93%, 83%, and 73% at 5, 10, 20, and 30 years after the first symptom, respectively. Survival rates for diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc were 91%, 86%, 64%, and 39%; and 97%, 95%, 85%, and 81% at 5, 10, 20, and 30 years, respectively (log-rank: 67.63, P < 0.0001). The dcSSc subset, male sex, age at disease onset older than 65 years, digital ulcers, interstitial lung disease (ILD), PH, heart involvement, scleroderma renal crisis (SRC), presence of antitopoisomerase I and absence of anticentromere antibodies, and active capillaroscopic pattern showed reduced survival rate. In a multivariate analysis, older age at disease onset, dcSSc, ILD, PH, and SRC were independent risk factors for mortality. In the present study involving a large cohort of SSc patients, a high prevalence of disease-related causes of death was demonstrated. Older age at disease onset, dcSSc, ILD, PH, and SRC were identified as independent prognostic factors.

[Neurological involvement in systemic sclerosis]. / Manifestaciones neurológicas en la esclerosis sistémica.

INTRODUCTION: Systemic sclerosis (SS) is recognized as the connective tissue disease which less frequently presents neurological complications; in recent studies it is demonstrated, however, that neurological involvement in SS is more frequent of what it had been assumed. PATIENTS AND METHODS: Clinical neurological exploration was done in 26 patients with definitive SS; an electroneurogram was carried out in 23 cases in order to determine the prevalence of central neurological pathology and of peripheral neuropathy, to define its characteristics, and to investigate possible associations with clinical parameters and with autoimmunity. RESULTS: 23 cases (88%) were females and 3 cases (12%) males; the median age was 57.5 12.0 (SD) years, while the median age to the diagnosis was 51.3 12.3 (SD) years and the median period of natural history of disease was 6.2 3.1 years. Seven patients (26.9%) showed involvement of the CNS, being the headache and the neuropsychiatric manifestations the most common conditions (11.5%). Peripheral neuropathy prevalence was 39.1% (9 cases); according to the distribution of the injury, the polyneuropathy prevailed in 30.4% of cases. With regard to the functional selectivity, the sensitive-motor forms were most frequent (55.6%); according to the most involved structure, the axonal neuropathy was most common (44.4%).Discussion. The possible pathogenic mechanisms of the neurological pathology in this disease are discussed.

[Chronic polyneuropathy due to vitamin E deficiency]. / Polineuropatía crónica secundaria a deficiencia de vitamina E.

Vitamin E deficiency has been implicated as a causal factor in neurological disease for some time. Nevertheless, only in the last 10 years have we begun to understand the role this vitamin plays in the normal functioning and structure of the nervous system. Chronic fat malabsorption syndromes are the most common causes of low levels of this highly fat-soluble vitamin. We present a case of chronic polyneuropathy due to vitamin E deficiency caused by malabsorption in which a biliary-cholonic fistula was present. Plasma tocopherol levels were normalized by parenteral substitution, leading to substantial clinical improvement. We suggest that vitamin E levels be determined in cases of digestive disorders involving malabsorption of fats and in chronic neurological diseases, particularly spinal-cerebral degenerative and polyneuropathic diseases that are mainly sensory or motor-sensory in nature, given the potential reversibility of these disorders when caused by vitamin E deficiency.

[Cerebellar syndrome as first manifestation of late onset systemic lupus erythematosus]. / Síndrome cerebeloso como primera manifestación de un lupus eritematoso sistémico de inicio tardío.

Clinical characteristics of a 70-year-old women affected by an erythematous systemic lupus (ESL) of late onset, whose first main manifestation was the compromise of the central nervous system as cerebellar syndrome and which exhibited a good response to treatment, is described. Pathogenic and diagnostic aspects of the neurological manifestations of ESL are described.

[Intrapericardial pheochromocytoma]. / Feocromocitoma intrapericárdico.

Intrapericardial pheochromocytomas are extremely rare tumors. Diagnosing and localizing them are very difficult tasks when using conventional methods used for adrenal pheochromocytoma. We present the case of a patient with a pheochromocytoma who had a CT scan of the thorax and abdomen performed, as well as 131I methaiodinebencilguanidin (131 I-MIBG) gammagraphy, with completely normal results. The tumor was localized in the mediastinal area using 123 I-MIBG and NMR. The tumor was found intrapericardial during the operation; it was fixed to the pulmonary artery and in close contact with the left atrial, as well as with the circumflex and aorta arteries. It was possible to carry out the resection without causing any damage to these structures.

[Hemophagocytosis and undifferentiated carcinoma of the lung]. / Hemofagocitosis y carcinoma indiferenciado de pulmón.

Hemophagocytosis (HP) constitutes a valuable sign in the diagnosis of a number of hematologic diseases such as malignant histiocytosis (MH). It has also been described in the course of hematologic neoplasias being extremely rare in solid tumors. We present the case of a patient with pancytopenia, hepatomegaly, skin lesions and rapidly fatal evolution in whom the finding of HP in bone marrow arouse the suspicion of a MH. The post mortem study revealed the existence of undifferentiated lung carcinoma with a high degree of invasiveness, not finding histiocytic proliferation. The cases in the literature of the association of HP with non hematological neoplasias are revised as well as its possible pathogenic mechanisms. We conclude that MH needs to be considered as a non specific finding and that exhaustive cytochemical studies are necessary for the correct identification of the phagocytic cell.